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109 Cards in this Set

  • Front
  • Back

Limb buds visualized around ___ weeks

8 weeks

Define Epiphyses

Secondary ossification centers that are separated from the shaft of the long bone by a layer of cartilage

Distal femoral epiphyses are visible by __-__ weeks.




Proximal tibial epiphyses are visible by __-__ weeks.

32-35 weeks




34-35 weeks

Ulna vs Radius sides:

Ulna = Pinky finger side




Radius = Thumb side

Tibia vs Fibula:

Tibia is thicker & more ant

Suspicion for dysplasia when...

> 2 standard deviations

Rhizomelia

Shortening of prox portion of the bone segment (femur, humorous)

Mesomelia

Shortening of the middle segments (radius/ulna, tib/fib)

Micromelia

Shortening of entire limb

Most Common Lethal Skeletal Dysplasia?

Thantophoric Dysplasia: "death producing"

Thantophoric Dysplasia: Male vs Female?

Males more common

Thantophoric Dysplasia: How many types & which MC?

2 types, type I MC

Thantophoric Dysplasia: Type I

MC, short curved femurs and flat vertebral bodies


"Telephone Receiver" appearance of long bones

Thantophoric Dysplasia: Type II

Straight short femurs, taller vertebral bodies, cloverleaf skull

Kleeblattschadel associated with :

Cloverleaf skull

U/S findings with Thantophoric Dysplasia:

Micromelia


Curved/ bowed long bones


Hypo mineralization of bones


Narrow thorax : "champagne cork"


Frontal bossing


Macrocephaly


Polyhydraminos

Most Common non-lethal skeletal dysplasia:

Achondroplasia

Achondroplasia: Causes/Risks

Autosomal dominant/ spontaneous gene mutaiton




Advanced paternal age

Describe Heterozygous Achondroplasia

Good survival rate, normal intelligence, neurological complicaitons

Describe Homozygous Achondroplasia

(Rare) Lethal d/t pulmonary hypoplasia

U/S findings of Achondroplasia

May not be seen > 22 weeks


Rhizomelia


Macrocephaly


Trident hands


Depressed nasal bridge


Frontal bossing


Mild ventriculomegaly

Describe Achondrogenesis

Cartilage abnormalities= abnormal bone formation d/t hypo mineralization




May develop hydrops

Achondrogenesis: Type I (aka)

(AKA: Parenti-Fraccaro)


More severe


Autosomal recessive




Extreme micromelia, frontal bossing, short & thin ribs that may fracture and poor ossification of skull, spine & pelvis

Achondrogenesis: Type II (aka)

(AKA: Langer-Saldino)


Less severe


Autosomal dominant




Frontal bossing, Flat face w/ micrognathia, absence of rib fractures

Describe Short Rib Polydactyly:

Lethal, autosomal recessive


Short ribs & limbs w/ polydactyly


3 Types

Short Rib Polydactyly: Type I

Saldino-Noonan not associated w/ cleft lip or palate

Short Rib Polydactyly: Type II

Majewski Syndrome

Short Rib Polydactyly: Type III

Naumoff Syndrome not associated w/ cleft lip/palate

Findings of Short Rib Polydactyly:

Narrow thorax


Hypomineralizaton


Short ribs


Polydactyly/ Syndactyly


Micromelia


Midline facial defects (cleft lip/palate)

Describe Asphyxiating Thoracic Dysplasia (aka)

(AKA: Jeune's Syndrome)




Rare, autosomal recessive


Extremely narrow thorax


Rhizomelia


Polydactyly


Pelvic & renal anomalies

Describe: Ellis-Van Creveld Syndrome (aka)

(AKA: Chondroectodermal dysplasia)




Rare, autosomal recessive


AMISH COMMUNITY

Findings of Ellis-Van Creveld Syndrome

ASD




Short limbs/ ribs


narrow thorax


polydactyly


Dysplastic nails & teeth, thin hair


Abnormalities of upper lip

OI type I

Mild, unlikely to Ddx in utero Autosomal Dominant.




Limb bowing (Fractures after birth), normal stature

OI Type II

MOST SEVERE: LETHAL


Autosomal Recessive, dominant or spontaneous


Reduced echogenicity of long bones (transparent bone sign)


Multiple in utero fractures

OI type III

Severe


Dominant or recessive


Deformities of long bones & spine

OI Type IV

MILDEST FORM


Multiple fractures


Short Stature

Describe Campomelic Dysplasia

Rare, Autosomal dominant


Short & bowed long bones


Short trunk, bell shaped chest

Describe Hypophosphatasia:

Diffuse hypo mineralization d/t alkaline phosphate deficiency


Inherited: Autosomal dom or recess


LETHAL

Findings of Hypophosphatasia:

Mod- sev Micromelia


Fractured/ bowed/ absent extremeties


Poor ossification of cranium, supervis of brain


Small thoracic cavity

Describe Diastrophic Dysplasia

Rare, Autosomal Recessive


Micrognathia, kyphoscoliosis


Variable prognosis


Adults < 4 feet


Micromelia, club feet, cleft palate, short stature, earlobe deformities, hand abnormalities



Describe Roberts Syndrome (aka)

(AKA: Pseudothalidomide Syndrome)




Rare, Autosomal recessive


Poor prognosis

Findings of Roberts Syndrome

Phocomelia: Hands/feet attach to body by a short, flipper like stump

B/L cleft lip & palate


Hypertelorism


Microcephaly


Growth restriction, mental retardation

Describe Caudal Regression

SIRENOMELIA


Malformation of the caudal end of the neural tube

Caudal Regression: causes/risks

Uncontrolled diabete, single umbilical artery

Describe Sirenomelia

Most severe form of caudal regression


Fusion of lower extremities


Renal anomalies


oligo & pulm hypoplasia


single umbilical A

Findings of Arthrogryposis Multiplex Congenita

Abnormal nerve innervations as well as disorders of the muscles and connective tissue




SEVERE CONTRACTURES - stiffness


Rigid extremities, flexed arms, hypertension of knees, clinched hands, club foot

Describe Lethal Multiple Plerygioum Syndrome

Autosomal Recessive


Webbing across joints & multiple contractures

Associated findings of Lethal Multiple Plerygioum Syndrome

Cystic hygroma, micrognathia, polyhydraminos

Describe Pena-Shokeir Syndrome

Abnormal joint contractures, facial abnormalities, polyhydraminos, IGUR, & pulmonary hypoplasia


Assoc w/ Trisomy 18 & Rocker bottom feet



Amelia

Absence of 1 or more limbs

Aplasia

Absence of bone

Acheiria

Absence of 1 or both hands

Apodia

Absence of 1 or both feet

Adactyly

Absence of 1 or more digits: hands or feet

Hemimelia

Absence of 1 or more extremities below the elbow or knee

Hypoplasia

Incomplete development of the bone

Meromelia

Absence of part of a limb

Phocomlia

Absence of prox portion of extremity w/ hand or foot attached to trunk

Polydactyly

Extra digits

Syndactyly

Fused digits

Clinodactyly

Overlapping digits

Ectrodactyly

Lobster claw anomaly, cleft hand, split hand anomaly


Deficiency of central digits of the hand/foot giving the appearance of a "claw-like" conformation

Most Common hand anomaly:

Polydactyly

Describe Pre-axial Polydactyly

Located on radial (thumb) side of hand

Describe Post-axial Polydactyly

MC- Located on the ulnar (pinky) side of hand

Describe Central Polydactyly

Affects the three central digits

Sandal Gap anomaly assoc w/

T21

Describe Rocker bottom feet :


Assoc w/

Prominent heel & convex sole


assoc w/ T18

Describe Club Foot (aka)


& assoc w/:

(AKA: Talipes)




Foot line in same plane as lower leg




Assoc w/ chromosomal anomalies/ syndromes, MSK disorders, SPINA BIFIDA, Oligo, & multiple gestations

What gestational age should you mean Long bones?

12 weeks



Growth that is > 90th % for established GA termed:

Macrosomia

Growth that meas <10th % is termed :

IGUR

Fetal growth can be meas as often as ____ or as clinically indicated

Every 2 weeks

Risk factors for IUGR

Maternal HTN, smoking, Uterine anomalies, large fibroids, placental insufficiency and hemorrhage

Possible causes of Symmetric IUGR

Genetic growth pattern, Intrauterine infection, severe maternal malnutrition, fetal alcohol syndrome, chromosomal anomaly, severe congenital anomaly

What is the brain sparing affect?

Asymmetric IGUR

- Appropriate HC and BPD, but disproportionate AC





What is the more common form of IUGR?

Asymmetric

Possible causes of Asymmetric IUGR:

*Placental Insufficiency* caused by severe maternal diabetes, chronic HTN, cardiac/renal disease, abruption, multiple gestation, smoking/drugs.

Helpful measurements to determine IUGR:

AC


or


HC/AC ratio: increases w/ IUGR

Noninvasive ultrasound exam that predicts the presence or absence of fetal asphyxia and risk of fetal death in antenatal period.

BPP

Noninvasive test that monitors the fetal heart rate and uterine contractions and is used to evaluate fetal well-being

NST

Requirements for full points on BPP:

8 pts possible points:


2pts : Gross body movement (3 fetal movements in 30 min)


2pts : Tone (1 felx/extension in 30 min)


2pts: Breathing (30 sec in 30 min)


2pts: AFV (min of 2cm x 2cm)

Describe an Acceleration in a NST

Rise in FHR that peaks at least 15 bmp above baseline & lasts for at least 15 sec

Describe a Reactive NST

2 accelerations in up to a 40 min period


GOOD

Describe a Non-Reactive NST

Less than 2 accelerations in up to a 40 min period, a flat tracing or consistent decrease in the FHR

When do Decelerations in a NST become an increased risk for fetal death

Decels last longer than 60 sec and are repetitive

What Gest Age mes AFI?

24-26 weeks

AFI Parameters: WNL

5cm - 24cm

AFI Parameters: Oligiohydraminos

Total AFI < 5cm and LVP = 2cm

AFI Parameters: Polyhydraminos

Aka Hydraminos


Total AFI > 24cm and LVP of >/= 8 cm

What are the components of an APGAR test

Activity


Pulse


Grimace (Reflex)


Appearance


Respiration

APGAR scores:




Normal =


Fairly low =


Critically low =

Norm: Above 7




Fairly low: 4-6




Critically low: Below 3

AFI/NST/BPP are most commonly scheduled for _____ time periods

Twice weekly testing

What is importance of MCA Doppler? What does it show?

Predicts presence of fetal anemia and IUGR


Higher MCA = more risk for anemia

What will MCA Dp show w/ IUGR

- Decrease in cerebral resistance


- Low S/D ratios


- Decreased PI

What is the importance of Uterine Artery Doppler? What does it tell us?

Asses risk for Preeclampsia


High Resistance Index & notching may indicate risk for Preeclampsia & adverse pregnancy outcome

S/D ratio of Uterine Artery should be less than ____

2.6

What is the importance of Umbilical Artery Doppler? What does it tell us?

Increased S/D ratio indicates incr vas resistance = IUGR

What classifies as an abnormal Umbilical A Dp?

End Diastolic flow that is intermittently Absent, Absent, or Reversed


*Absent/ Reversed = high morality rate



Rule of thumb for abnormal S/D ratio of Umbilical A Dp

S/D ratio > 3.0 after 30 weeks = ABNORMAL!

Describe the Ductus Venosus

Narrow, trumpet-shaped vessel in the fetal liver


Connects the Umbilical vein to the IVC

What is an abnormal Ductus Venosus Dpl? What does it indicate?

Reversal = Abnormal


Indicates incr placental resistance in severe IGUR, or cardiac output abnormalities w/ structure cardiac dis

What does the transparent bone sign? What is it associated with?

Reduced echogenicity of Long bones


Osteogenesis Imperfecta Type II

Most Common Type of Thantophoric Dysplasia

Type I

Most Severe Type of Achondrogenesis

Type I

Which disorders display a compressible calvarium:

OI or Hypophosphatasia

Which disorders have a Good survival rate?

Achondroplasia (heterozygous)


Ellis-Van Creveld Syndrome

Types of Achondrogenesis & Akas

Penny Feels Little Sometimes




Type I : Parenti-Fraccaro = Rib fractures


Type II : Langer Saldino

Types of Short Rib Polydactyly & Akas

Salads Never Make News




Type I : Saldino Noonan = no clefts


Type II : Majewski


Type III : Naumoff = no clefts